Works matching IS 10184813 AND DT 2014 AND VI 22 AND IP 11

Results: 21

The myosin chaperone UNC45B is involved in lens development and autosomal dominant juvenile cataract.

Published in:

European Journal of Human Genetics, 2014, v. 22, n. 11, p. 1290, doi. 10.1038/ejhg.2014.21

By:

Hansen, Lars;
Comyn, Sophie;
Mang, Yuan;
Lind-Thomsen, Allan;
Myhre, Layne;
Jean, Francesca;
Eiberg, Hans;
Tommerup, Niels;
Rosenberg, Thomas;
Pilgrim, David

Publication type:

Article

Genotype to phenotype correlations in cartilage oligomeric matrix protein associated chondrodysplasias.

Published in:

European Journal of Human Genetics, 2014, v. 22, n. 11, p. 1278, doi. 10.1038/ejhg.2014.30

By:

Briggs, Michael D;
Brock, Joanne;
Ramsden, Simon C;
Bell, Peter A

Publication type:

Article

Clinical utility gene card for: Dent disease (Dent-1 and Dent-2).

Published in:

European Journal of Human Genetics, 2014, v. 22, n. 11, p. e1, doi. 10.1038/ejhg.2014.33

By:

Ludwig, Michael;
Levtchenko, Elena;
Bökenkamp, Arend

Publication type:

Article

Face shape differs in phylogenetically related populations.

Published in:

European Journal of Human Genetics, 2014, v. 22, n. 11, p. 1268, doi. 10.1038/ejhg.2013.289

By:

Hopman, Saskia M J;
Merks, Johannes H M;
Suttie, Michael;
Hennekam, Raoul C M;
Hammond, Peter

Publication type:

Article

Myhre and LAPS syndromes: clinical and molecular review of 32 patients.

Published in:

European Journal of Human Genetics, 2014, v. 22, n. 11, p. 1272, doi. 10.1038/ejhg.2013.288

By:

Michot, Caroline;
Le Goff, Carine;
Mahaut, Clémentine;
Afenjar, Alexandra;
Brooks, Alice S;
Campeau, Philippe M;
Destree, Anne;
Di Rocco, Maja;
Donnai, Dian;
Hennekam, Raoul;
Heron, Delphine;
Jacquemont, Sébastien;
Kannu, Peter;
Lin, Angela E;
Manouvrier-Hanu, Sylvie;
Mansour, Sahar;
Marlin, Sandrine;
McGowan, Ruth;
Murphy, Helen;
Raas-Rothschild, Annick

Publication type:

Article

Public views on participating in newborn screening using genome sequencing.

Published in:

European Journal of Human Genetics, 2014, v. 22, n. 11, p. 1248, doi. 10.1038/ejhg.2014.22

By:

Bombard, Yvonne;
Miller, Fiona A;
Hayeems, Robin Z;
Barg, Carolyn;
Cressman, Celine;
Carroll, June C;
Wilson, Brenda J;
Little, Julian;
Avard, Denise;
Painter-Main, Michael;
Allanson, Judith;
Giguere, Yves;
Chakraborty, Pranesh

Publication type:

Article

Redundant enhancers and causal variants in the TCF7L2 gene.

Published in:

European Journal of Human Genetics, 2014, v. 22, n. 11, p. 1243, doi. 10.1038/ejhg.2014.17

By:

Ruiz-Narváez, Edward A

Publication type:

Article

Myhre and LAPS syndromes: clinical and molecular review of 32 patients.

Published in:

European Journal of Human Genetics, 2014, v. 22, n. 11, p. 1340, doi. 10.1038/ejhg.2014.182

By:

Michot, Caroline;
Le Goff, Carine;
Mahaut, Clémentine;
Afenjar, Alexandra;
Brooks, Alice S;
Campeau, Philippe M;
Destree, Anne;
Di Rocco, Maja;
Donnai, Dian;
Hennekam, Raoul;
Heron, Delphine;
Jacquemont, Sébastien;
Kannu, Peter;
Lin, Angela E;
Manouvrier-Hanu, Sylvie;
Mansour, Sahar;
Marlin, Sandrine;
McGowan, Ruth;
Murphy, Helen;
Raas-Rothschild, Annick

Publication type:

Article

Improved imputation quality of low-frequency and rare variants in European samples using the 'Genome of The Netherlands'.

Published in:

European Journal of Human Genetics, 2014, v. 22, n. 11, p. 1321, doi. 10.1038/ejhg.2014.19

By:

Deelen, Patrick;
Menelaou, Androniki;
van Leeuwen, Elisabeth M;
Kanterakis, Alexandros;
van Dijk, Freerk;
Medina-Gomez, Carolina;
Francioli, Laurent C;
Hottenga, Jouke Jan;
Karssen, Lennart C;
Estrada, Karol;
Kreiner-Møller, Eskil;
Rivadeneira, Fernando;
van Setten, Jessica;
Gutierrez-Achury, Javier;
Westra, Harm-Jan;
Franke, Lude;
van Enckevort, David;
Dijkstra, Martijn;
Byelas, Heorhiy;
van Duijn, Cornelia M

Publication type:

Article

The future of Clinical Utility Gene Cards in the context of next-generation sequencing diagnostic panels.

Published in:

European Journal of Human Genetics, 2014, v. 22, n. 11, p. 1247, doi. 10.1038/ejhg.2014.23

By:

Dierking, Anna;
Schmidtke, Jörg

Publication type:

Article

Biallelic MUTYH mutations can mimic Lynch syndrome.

Published in:

European Journal of Human Genetics, 2014, v. 22, n. 11, p. 1334, doi. 10.1038/ejhg.2014.15

By:

Morak, Monika;
Heidenreich, Barbara;
Keller, Gisela;
Hampel, Heather;
Laner, Andreas;
de la Chapelle, Albert;
Holinski-Feder, Elke

Publication type:

Article

Clinical utility gene card for: 15q13.3 microdeletion syndrome.

Published in:

European Journal of Human Genetics, 2014, v. 22, n. 11, p. e1, doi. 10.1038/ejhg.2014.88

By:

Tropeano, Maria;
Andrieux, Joris;
Vassos, Evangelos;
Collier, David A

Publication type:

Article

Teeth anomalies and genetics, including genetic syndromes.

Published in:

European Journal of Human Genetics, 2014, v. 22, n. 11, p. 1339, doi. 10.1038/ejhg.2014.98

By:

Lacombe, Didier

Publication type:

Article

Next-generation sequencing for the diagnosis of hereditary breast and ovarian cancer using genomic capture targeting multiple candidate genes.

Published in:

European Journal of Human Genetics, 2014, v. 22, n. 11, p. 1305, doi. 10.1038/ejhg.2014.16

By:

Castéra, Laurent;
Krieger, Sophie;
Rousselin, Antoine;
Legros, Angélina;
Baumann, Jean-Jacques;
Bruet, Olivia;
Brault, Baptiste;
Fouillet, Robin;
Goardon, Nicolas;
Letac, Olivier;
Baert-Desurmont, Stéphanie;
Tinat, Julie;
Bera, Odile;
Dugast, Catherine;
Berthet, Pascaline;
Polycarpe, Florence;
Layet, Valérie;
Hardouin, Agnes;
Frébourg, Thierry;
Vaur, Dominique

Publication type:

Article

A national perspective on prenatal testing for mitochondrial disease.

Published in:

European Journal of Human Genetics, 2014, v. 22, n. 11, p. 1255, doi. 10.1038/ejhg.2014.35

By:

Nesbitt, Victoria;
Alston, Charlotte L;
Blakely, Emma L;
Fratter, Carl;
Feeney, Catherine L;
Poulton, Joanna;
Brown, Garry K;
Turnbull, Doug M;
Taylor, Robert W;
McFarland, Robert

Publication type:

Article

Cell therapy using retinal progenitor cells shows therapeutic effect in a chemically-induced rotenone mouse model of Leber hereditary optic neuropathy.

Published in:

European Journal of Human Genetics, 2014, v. 22, n. 11, p. 1314, doi. 10.1038/ejhg.2014.26

By:

Mansergh, Fiona C;
Chadderton, Naomi;
Kenna, Paul F;
Gobbo, Oliviero L;
Farrar, G Jane

Publication type:

Article

Attenuated familial adenomatous polyposis manifests as autosomal dominant late-onset colorectal cancer.

Published in:

European Journal of Human Genetics, 2014, v. 22, n. 11, p. 1330, doi. 10.1038/ejhg.2014.20

By:

Ibrahim, Abdulla;
Barnes, Daniel R;
Dunlop, Jacqueline;
Barrowdale, Daniel;
Antoniou, Antonis C;
Berg, Jonathan N

Publication type:

Article

Intragenic deletions affecting two alternative transcripts of the IMMP2L gene in patients with Tourette syndrome.

Published in:

European Journal of Human Genetics, 2014, v. 22, n. 11, p. 1283, doi. 10.1038/ejhg.2014.24

By:

Bertelsen, Birgitte;
Melchior, Linea;
Jensen, Lars R;
Groth, Camilla;
Glenthøj, Birte;
Rizzo, Renata;
Debes, Nanette Mol;
Skov, Liselotte;
Brøndum-Nielsen, Karen;
Paschou, Peristera;
Silahtaroglu, Asli;
Tümer, Zeynep

Publication type:

Article

Systematic large-scale study of the inheritance mode of Mendelian disorders provides new insight into human diseasome.

Published in:

European Journal of Human Genetics, 2014, v. 22, n. 11, p. 1260, doi. 10.1038/ejhg.2013.309

By:

Hao, Dapeng;
Wang, Guangyu;
Yin, Zuojing;
Li, Chuanxing;
Cui, Yan;
Zhou, Meng

Publication type:

Article

Novel physiological RECQL4 alternative transcript disclosed by molecular characterisation of Rothmund-Thomson Syndrome sibs with mild phenotype.

Published in:

European Journal of Human Genetics, 2014, v. 22, n. 11, p. 1298, doi. 10.1038/ejhg.2014.18

By:

Colombo, Elisa Adele;
Fontana, Laura;
Roversi, Gaia;
Negri, Gloria;
Castiglia, Daniele;
Paradisi, Mauro;
Zambruno, Giovanna;
Larizza, Lidia

Publication type:

Article

Coffin-Siris Syndrome with obesity, macrocephaly, hepatomegaly and hyperinsulinism caused by a mutation in the ARID1B gene.

Published in:

European Journal of Human Genetics, 2014, v. 22, n. 11, p. 1327, doi. 10.1038/ejhg.2014.25

By:

Vals, Mari-Anne;
Õiglane-Shlik, Eve;
Nõukas, Margit;
Shor, Riina;
Peet, Aleksandr;
Kals, Mart;
Kivistik, Paula Ann;
Metspalu, Andres;
Õunap, Katrin

Publication type:

Article